ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4855T>C (p.Ser1619Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004961946 SCV005475110 uncertain significance Inborn genetic diseases 2024-08-27 criteria provided, single submitter clinical testing The c.4855T>C (p.S1619P) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a T to C substitution at nucleotide position 4855, causing the serine (S) at amino acid position 1619 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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